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MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1

Known as: MCCRP1, Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1 
An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by… 
National Institutes of Health

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Autosomal recessive inheritanceCerebellar HypoplasiaCerebral atrophyChorioretinopathy

Papers overview

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2016
2016
Familial Cases of birdshot Chorioretinopathy: genetic and epidemiology